A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441978



Internal ID220424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209502745..209563077hg38UCSC Ensembl
chr2:210367469..210427801hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3860333
hg1960333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928078
Samples
Known GenesMAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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